Canonical Allele Identifier: CA2195302494

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811571_90811597delinsCAAAAATATTTGCTTCAAGAAACAACA , CM000677.2:g.90811571_90811597delinsCAAAAATATTTGCTTCAAGAAACAACA	GRCh38
NC_000015.9:g.91354801_91354827delinsCAAAAATATTTGCTTCAAGAAACAACA , CM000677.1:g.91354801_91354827delinsCAAAAATATTTGCTTCAAGAAACAACA	GRCh37
NC_000015.8:g.89155805_89155831delinsCAAAAATATTTGCTTCAAGAAACAACA	NCBI36
NG_007272.1:g.99200_99226delinsCAAAAATATTTGCTTCAAGAAACAACA , LRG_20:g.99200_99226delinsCAAAAATATTTGCTTCAAGAAACAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA MANE Select	ENSP00000347232.3:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAA...
ENST00000560559.2:n.2649+165_2649+191delinsCAAAAATATTTGCTTCAAGAAACAACA
ENST00000648453.1:c.4077-107_4077-81delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000497646.1:n.4077-107_4077-81delinsCAAAAATATTTGCTTCAAG...
ENST00000680772.1:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000506117.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAA...
ENST00000681142.1:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000506682.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAA...
ENST00000355112.7:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000347232.3:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAA...
ENST00000558825.5:n.1423+165_1423+191delinsCAAAAATATTTGCTTCAAGAAACAACA
ENST00000559724.5:c.*3000+165_*3000+191delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000453359.1:n.*3000+165_*3000+191delinsCAAAAATATTTGCTTC...
ENST00000560509.5:c.3683+165_3683+191delinsCAAAAATATTTGCTTCAAGAAACAACA	ENSP00000454158.1:n.3683+165_3683+191delinsCAAAAATATTTGCTTCAA...
ENST00000560821.1:n.496+165_496+191delinsCAAAAATATTTGCTTCAAGAAACAACA
NM_000057.3:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_000048.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACA...
NM_001287246.1:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274175.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAA...
NM_001287247.1:c.3683+165_3683+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274176.1:n.3683+165_3683+191delinsCAAAAATATTTGCTTCAAGAA...
NM_001287248.1:c.2951+165_2951+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274177.1:n.2951+165_2951+191delinsCAAAAATATTTGCTTCAAGAA...
XM_006720632.2:c.2114+165_2114+191delinsCAAAAATATTTGCTTCAAGAAACAACA	XP_006720695.1:n.2114+165_2114+191delinsCAAAAATATTTGCTTCAAGAA...
XM_011521881.1:c.2762+165_2762+191delinsCAAAAATATTTGCTTCAAGAAACAACA	XP_011520183.1:n.2762+165_2762+191delinsCAAAAATATTTGCTTCAAGAA...
XM_011521881.2:c.2762+165_2762+191delinsCAAAAATATTTGCTTCAAGAAACAACA	XP_011520183.1:n.2762+165_2762+191delinsCAAAAATATTTGCTTCAAGAA...
NM_000057.4:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA MANE Select	NP_000048.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACA...
NM_001287246.2:c.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274175.1:n.4076+165_4076+191delinsCAAAAATATTTGCTTCAAGAA...
NM_001287247.2:c.3683+165_3683+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274176.1:n.3683+165_3683+191delinsCAAAAATATTTGCTTCAAGAA...
NM_001287248.2:c.2951+165_2951+191delinsCAAAAATATTTGCTTCAAGAAACAACA	NP_001274177.1:n.2951+165_2951+191delinsCAAAAATATTTGCTTCAAGAA...